"Nice genes dude"

Let me start by saying that I am not at my bestest blog writing place today. I got a sum total of about 4 hours of sleep last night and have been stupid all day long. I can't tell you how many times my physiotherapist had to say "Um....your other left Colleen". Yah, being able to figure the difference between left and right apparently is a higher brain function. Then of course I let my dog outside this evening and not only did I forget about him for about half an hour but the only reason I clued in was because the back door was open and our two completely indoor cats were exploring the yard. Apparently closing the door is also a higher brain function. Watch out Mensa. Here I come.

So it might have been a better idea to take a nap rather than try to put something out onto the world wide web for everyone to ridicule for years to come but I really couldn't wait to give you the much anticipated first update on the genetic testing for Andrew. As some of you who have been following along will know my son Drew is undergoing testing for a rare form of Muscular Dystrophy called Becker (or BMD). Blood was drawn in February and we've been waiting ever since. Apparently splicing genes is hard or something. Sheesh. Although Drew is blissfully unaware of the concern at this point I will say that this has been hard on all of the adults in his life. His family, the school staff, and other friends have been anxiously waiting to get word. I would even hazard a guess that it's been hard on the poor lady who answers the phone at his neurologist's office. She probably recognizes my phone number on her call display by now. So when I called again a few days ago she excitedly said the results are back but the doctor hadn't even fully reviewed them yet. Then she asked me if I wanted her to read me the summary of the report. "Hell yah" is what popped into my head. I probably was a little bit more diplomatic and said something nice like "Yes please" but really I couldn't tell you what awesome choice of words I actually used since my brain is on vacation these days. She gave me the usual disclaimer "I am not a physician so I can in no way interpret these results for you....blah blah, blah".

Thankfully I have some experience reading medical genetics reports because of my job and so I probably had at least as good a chance at understanding some of the scientific lingo as any non-doctor could. Now I will point out that I've probably only read 6 or 7 of these in my day and they are always on my desk in front of me with my online medical dictionary and Google at the ready. I am not an expert in this field at all and I've never had to actually try to make sense of this kind of information over the phone. From what I could understand the lab did not find any duplications or deletions on Andrew's Dystrophin gene. Generally speaking that is extremely good news since the condition can be caused by at least 100 different "mistakes" on this particular gene. Depending on which error is made will determine the severity of the condition for the affected child. Not finding any defects is a great start. She went on to say something about the serum levels not being at critical levels. From my very limited knowledge of Becker Muscular Dystrophy the boys that have this diagnosis will have elevated levels of a particular serum in their blood. I can only assume that not being at critical levels is also a very good thing. I mean even the word "critical" doesn't sound very good in this context does it? Because I was anxious and had nothing but time.....like months of it.....I've gone and done what I always advise the parents I work with to try to avoid and that's to read a lot of medical articles on the internet that may or may not have updated or accurate information on them. Believe me when I say that this kept me sane over the last however many weeks. The problem is you just don't always know how much weight to place on what you've read.

I do recall reading somewhere that some boys with Becker's do not have an identified genetic marker and that just having elevated levels of this serum can cause problems in the muscle function. Not being at critical levels is good but that doesn't mean they aren't still elevated in some way. So what this means is that we are not out of the woods just yet. More like we've found a little clearing amongst the trees. I may still go to the appointment with the neurologist in June and have her tell me that he meets criteria for a diagnosis despite seemingly making it through genetic testing alright. Of course I hope that isn't the case but in thinking back to the initial appointment she did come to this as a conclusion rather quickly once she examined him and heard my concerns. It was like she was checking off boxes in her head. Of course I don't have a window into her thoughts that day but I will say she didn't check him for any other conditions. Just this one.

It's hard to describe the emotions I am feeling right now. A part of me wants to celebrate that we are one step closer....or at least that's how it feels.....to never having to worry about Muscular Dystrophy again. Then there is a cautious part of me that doesn't want to get my hopes up only to be crushed. The Muscular Dystrophy Association of Canada was one of the sources of info that stated only some boys with BMD will have a known genetic marker identified. Before I started into this process I innocently assumed that genetics was completely clear cut. In theory shouldn't they be able to tell you with certainty that you either have this condition or if you are really lucky you don't? Becker's Muscular Dystrophy is considered to be 100% due to genetics so I just assumed that we'd have a clear answer at the end of all of this. Maybe in 10 years science will be at the point that they can detect it in all patients but for now even the lack of critical serum levels or a failure to find wacky gene defects doesn't mean we have much more information than we did before. If anything the picture may have become less clear now.

And what if we find out that Drew does not fit into the BMD picture but they never really figure out what is going on with him? I imagine that sometimes not knowing would be worse than having an answer you don't really like. For now I have a bit of information to hold me over until we meet with our wonderful doctor in about 6 weeks. There is a potential end to this emotional marathon in sight.....but it may also be the first steps in a very long journey too. "One foot in front of the other Colleen".......